ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.520G>A (p.Val174Ile)

dbSNP: rs749663903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002026427 SCV002302893 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-05-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FKTN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 174 of the FKTN protein (p.Val174Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.

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